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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 22-17209606-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=17209606&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 17209606,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000399837.8",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "NM_001282225.2",
"protein_id": "NP_001269154.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 511,
"cds_start": 72,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": "ENST00000399837.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "ENST00000399837.8",
"protein_id": "ENSP00000382731.2",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 511,
"cds_start": 72,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": "NM_001282225.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "ENST00000262607.3",
"protein_id": "ENSP00000262607.2",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 511,
"cds_start": 72,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "NM_001282226.2",
"protein_id": "NP_001269155.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 511,
"cds_start": 72,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 4322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "ENST00000399839.5",
"protein_id": "ENSP00000382733.1",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 511,
"cds_start": 72,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "ENST00000543038.2",
"protein_id": "ENSP00000442482.2",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 511,
"cds_start": 72,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "ENST00000649310.2",
"protein_id": "ENSP00000496839.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 511,
"cds_start": 72,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "ENST00000649746.2",
"protein_id": "ENSP00000497913.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 511,
"cds_start": 72,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "ENST00000696196.1",
"protein_id": "ENSP00000512479.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 511,
"cds_start": 72,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 4383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "ENST00000696197.1",
"protein_id": "ENSP00000512480.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 511,
"cds_start": 72,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 5353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "ENST00000696225.1",
"protein_id": "ENSP00000512491.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 511,
"cds_start": 72,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "ENST00000696226.1",
"protein_id": "ENSP00000512492.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 267,
"cds_start": 72,
"cds_end": null,
"cds_length": 804,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "ENST00000696227.1",
"protein_id": "ENSP00000512493.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 187,
"cds_start": 72,
"cds_end": null,
"cds_length": 564,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 1354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "XM_011546133.3",
"protein_id": "XP_011544435.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 511,
"cds_start": 72,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 4397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe",
"transcript": "XM_047441406.1",
"protein_id": "XP_047297362.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 294,
"cds_start": 72,
"cds_end": null,
"cds_length": 885,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "n.72C>T",
"hgvs_p": null,
"transcript": "ENST00000649915.2",
"protein_id": "ENSP00000497681.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.-47-8C>T",
"hgvs_p": null,
"transcript": "NM_001282227.2",
"protein_id": "NP_001269156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": -4,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.-47-8C>T",
"hgvs_p": null,
"transcript": "NM_001282228.2",
"protein_id": "NP_001269157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": -4,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.-47-8C>T",
"hgvs_p": null,
"transcript": "ENST00000449907.8",
"protein_id": "ENSP00000406443.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": -4,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
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"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.-47-8C>T",
"hgvs_p": null,
"transcript": "ENST00000649540.1",
"protein_id": "ENSP00000497469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": -4,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.-38-2316C>T",
"hgvs_p": null,
"transcript": "NM_001282229.2",
"protein_id": "NP_001269158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.-38-2316C>T",
"hgvs_p": null,
"transcript": "ENST00000610390.5",
"protein_id": "ENSP00000483418.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "n.80-8C>T",
"hgvs_p": null,
"transcript": "ENST00000650635.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"dbsnp": "rs374752508",
"frequency_reference_population": 0.000026021435,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000225744,
"gnomad_genomes_af": 0.000059125,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.958,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000399837.8",
"gene_symbol": "ADA2",
"hgnc_id": 1839,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.72C>T",
"hgvs_p": "p.Phe24Phe"
}
],
"clinvar_disease": "Sneddon syndrome,Vasculitis due to ADA2 deficiency",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Vasculitis due to ADA2 deficiency|Vasculitis due to ADA2 deficiency;Sneddon syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}